COVID-19 and Rare Disease: One Family’s experience

Having a rare condition like a hypothalamic hamartoma can be
very scary. In today’s world, with so much uncertainty around COVID-19, having
both at the same time can be downright frightening!

However, as time goes by, we are all learning to live with uncertainty and move beyond the fear. For some, this experience has taught them to be more resilient than they ever thought possible. One of those individuals is Yssa DeWoody, PhD. She is a mother, a Cofounder of a rare epilepsy/chromosomal disorder nonprofit organization called Ring 14 USA, and President of their Ring 14 International organization.

Recently, Yssa shared her experience of having to take her medically fragile daughter, Marie, to the ER with a suspected case of COVID-19. We wanted to share her story with our HH community for several reasons. Yssa is an amazing Mom and role model for parents with loved ones that are compromised medically. She is also an incredible woman that always seems to find a way to learn from her experience and share the Lessons Learned with others so that we all might benefit and shorten the learning curve with our loved ones!

Here is her story and the resources she references in her
article:

24 Hours in the COVID-19 Ward with Marie

We are taking the COVID-19 pandemic very seriously in our
house. This is because, even under the best of circumstances, our youngest
daughter, Marie, is medically fragile due to a rare chromosomal disorder called
Ring14 Syndrome. She has several underlying medical conditions, including
intractable epilepsy, intellectual disabilities, and a compromised pulmonary
system, that put her at high risk for a severe illness from COVID-19. As such,
Marie has been almost completely isolated since March 7th. Even our older
daughters, who are in college and never turn down an opportunity to see Marie,
chose not to come home this spring for fear of introducing the coronavirus
(SARS-CoV-2) to our household. Despite all the precautions, Marie was admitted
to the COVID ward of our local hospital on Thursday evening due to COVID-like
symptoms, March 30th, for a very stressful 24 hours. Below is the story of how
we got there and what we learned from this experience.

Marie’s week was a slow decline that didn’t initially
indicate a concern about the coronavirus. Here is how it unfolded: It started
with a cluster of seizures that stretched from late Monday evening to Wednesday
afternoon. During this 36-hour window, Marie had 8 tonic/clonic seizures that
left her, and us, wiped out. On Wednesday night, although the seizures had
relented, Marie started coughing. By Thursday morning she had tremors, an
elevated heartrate, and low oxygen saturation. At 10am that morning, we called
her pediatrician to weigh the need for an office visit against the risk of
exposing Marie to another pathogen. By noon, she was running a fever and had
coughed up some bloody sputum. At this point an office visit was necessary.
However, COVID-19 was still only a remote concern. We were much more concerned
that she’d aspirated during her seizures, a fear that was supported by the 4-
month-old memory of such an occurrence that left Marie intubated with sepsis in
the PICU for a week. This memory was probably on our pediatrician’s mind as
well. After examining Marie and once again weighing the risks, our doctor
called the ER to advise them that she was sending us there for tests, x- rays,
and IV fluids.

Luckily, we live in an area that still only has a few
confirmed cases of COVID-19. However, while neither are over-burdened at the
moment, the ER and hospital have changed drastically in the last month. At the
door of the hospital my husband, Andrew, and I had to decide which of us would
accompany Marie, because only one visitor is allowed with pediatric patients.
We opted that I would stay with Marie, leaving Andrew with the difficult job of
waiting, and worrying, in the car. Upon entering the hospital, Marie and I were
both screened for risk of COVID-19, our temperatures were taken, and then we were
triaged to a private room in the ER. Marie’s chest x-ray showed pneumonia of
both lower lobes, but all the rapid tests for pathogens, which include Strep,
flu, RSV, came back negative.

At this point Marie became a potential COVID-19 patient and
a test was administered. The ER staff gave Marie an IV antibiotic to treat her
pneumonia as well as IV fluids. Then she was admitted to the COVID- 19 ward for
observation, out of concern for her ability to decline so rapidly.

By Friday afternoon, we had an understanding of what was
making Marie so sick. She had two bacterial infections one associated with
pneumonia and the other with a urinary tract infection. Since Marie was feeling
better and now had a bacterial pneumonia diagnosis, we were eager to go home
where we have most of the tools necessary to monitor her recovery.
Consequently, the hospital released us on Friday evening, pending an
anticipated negative COVID-19 test result, which arrived on Sunday afternoon.

Our experience serves as an example of how children without
COVID-19 might still find their way into the hospital during this scary time
despite best efforts to avoid it. Children like Marie are fragile – which means
that not only are they at high risk for COVID-19, but they are also at high
risk for myriad other complications, none of which cease during this crisis.
While we consider ourselves lucky in that we caught these infections early and
during a time that our local healthcare system was not yet overloaded, we must
now remain at a heighten sense of alert for the next two weeks, in
consideration of her potential exposure in the COVID ward. We hope that the
need to be hospitalized indeed outweighed the potential exposure.

As I reflect on this experience, I find myself thinking
about what I learned from this experience. And I’ve organized what I hope will
be some helpful thoughts for other families to consider if they are faced, as
we were, with the need to bring their fragile child into a hospital in the time
of COVID-19. I call this PPE for families trying to protect medically
fragile children in this pandemic, a spinoff of the all too scarce Personal
Protective Equipment.

P – Prepare: There is a lot of information out there
on how to best protect your family against this pandemic (see: CDC recommendations,
CNF recommendations, or EF recommendations for the epilepsy community). There
is also lots of advice on how to prepare to wait this out at home and mitigate
potential exposure. Under most circumstances home is absolutely the safest
place for your child. However, having faced down the hospital with Marie, I
encourage you to consider how you might also prepare for the worst: either
someone in your family catching this virus or being forced into this healthcare
system through an unrelated crisis.

Who will care for who if your child gets critically sick? if you get critically sick?

If hospitalization is necessary, what will you bring for your child? I encourage you to bring all medications and specialized equipment (VNS magnetic, g-tube supplies, diapering for older children). What will you bring for you? Personally, we keep a list so we can throw a bag together quickly.

Do you have a list readily available of all current medications and a plan of care for your child (seizure plan, feeding schedule, …), so that information can be quickly and reliably passed on to others? If not, consider starting one. Marie’s seizure journal/care diary always goes with us and we keep a current electronic version too.

P – Prioritize: Good crisis management requires the
ability to prioritize needs and tasks. Medical experts have been very vocal
that during this pandemic we should prioritize staying at home. But should a
medical problem arise, you and your doctor will have to weigh the medical needs
of your child against the risks of seeking medical help in this environment.
Due to COVID-19, more and more often, problems are being assessed, treated, and
billed through telemedicine. Please seek out this option whenever possible, in
order to mitigate risk. However, there are certainly medical conditions which
may require inhouse assessment and care, such as acute respiratory problems. In
such cases, call your doctor’s office first, discuss your options, and mitigate
as much risk as possible. Ask any questions you may have that might help you
avoid exposure to hospitals and doctor’s offices. Always trust yourself to
appropriately prioritize medical emergencies such as status epilepticus and
trauma.

E – Expectations: Manage your expectations, because
no matter how many times your child has been hospitalized in the past,
hospitalization in the current environment will be different. Realize that
until a rapid response COVID-19 test is in place, respiratory infections will
likely be treated as COVID-19 until proved otherwise. Adult COVID-19 patients
must do this alone. However, pediatric patients are currently generally allowed
one caregiver. This isolation is real and can be quite hard for the entire
family. Hopefully, the capacity of the healthcare system in your area is not
overwhelmed but be aware if extreme triage practices start to be implemented in
your area. Depending on the level of stress at your hospital, recognize that
you may be required to handle more of your child’s care in the hospital.
Realize that the doctors and nurses will become mentally and physically
exhausted. Treat healthcare providers with gratitude and grace and anticipate
good care but be ready to advocate on your child’s behalf if the need arises.

During this crisis, you must work closely with healthcare
professionals to assure that your child receives the care they need while
mitigating as much risk as possible. Now, more than ever, you will need to
advocate for your child – your voice is critical. So, speak up and speak
forcibly when necessary. Wishing everyone the best of health.

Yssa DeWoody, PhDMother, Cofounder of Ring14 USA, President of Ring14 International

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